Genotype–Phenotype correlations of SCARB2 associated clinical presentation: a case report...

[PDF] mdpi.com

Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances

V Zimmern, B Minassian - Genes, 2024 - mdpi.com
The progressive myoclonus epilepsies (PME) are a diverse group of disorders that feature
both myoclonus and seizures that worsen gradually over a variable timeframe. While each of …
相关文章 所有 7 个版本
[PDF] mdpi.com

Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions

E Pavan, P Peruzzo, S Cattarossi, N Bergamin… - International Journal of …, 2024 - mdpi.com
Glucocerebrosidase (GCase) is a lysosomal enzyme that catalyzes the breakdown of
glucosylceramide in the presence of its activator saposin C (SapC). SapC arises from the …
相关文章
[HTML] europepmc.org

[HTML][HTML] Action myoclonus–renal failure syndrome

D Amrom, F Andermann, E Andermann - 2015 - europepmc.org
Action myoclonus–renal failure (AMRF) syndrome typically comprises a continuum of two
major (and ultimately fatal) manifestations: progressive myoclonic epilepsy (PME) and renal …
被引用次数：7 相关文章 所有 2 个版本
[HTML] europepmc.org

[HTML][HTML] SCARB2-Related Action Myoclonus–Renal Failure Syndrome

C Xiao, H Ahn, S Kibrom, C Toro - 2015 - europepmc.org
SCARB2-related action myoclonus–renal failure syndrome (SCARB2-AMRF) comprises a
continuum of two major (and ultimately fatal) manifestations: progressive myoclonic epilepsy …
被引用次数：1 相关文章 所有 5 个版本

[引用][C] Unraveling Phenotypic Variability in Action Myoclonus with Renal Failure with SCARB2 Mutation in Siblings.

LJ Nair, A Vijayaraghavan - Movement Disorders Clinical Practice, 2024 - europepmc.org
Unraveling Phenotypic Variability in Action Myoclonus with Renal Failure with SCARB2
Mutation in Siblings. - Abstract - Europe PMC Sign in | Create an account https://orcid.org …
相关文章 所有 3 个版本